C1QB p.Pro247=
c.741A>C · rs113061112 · VCV1553637
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Rare
rare (popmax 0.176%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -6.5 | GERP -3.6 |
| Overall | ||
| CADD | 0.119 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.176%
African / African-American · 132/74,920 alleles
Filtering AF
0.152%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.142%
Overall
0.0108%
175/1,613,782 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.176% | 568 |
| Middle Eastern | 0.066% | 1,516 |
| Remaining individualsnot grpmax-eligible | 0.04% | 2,500 |
| Admixed American | 0.02% | 4,998 |
| South Asian | 0.0022% | 45,531 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- C1QB
- Protein
- p.Pro247=
- Coding
- c.741A>C
- MANE Select
- NM_001378156
- dbSNP
- rs113061112
- Type
- single nucleotide variant
- Location
- chr1:22661371 (GRCh38)
- Gene constraint
- LOEUF 1.001 · pLI 0.25 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 79.87 · 11 PDB
- Residue 247
- the c1q domain; a β-strand
Similar variants
- C1QB p.Arg175Ter Likely pathogenic ★★ same type
- C1QB p.Ala121Thr Uncertain significance ★★ ⚠ same type
- C1QB p.Ala124Asp Uncertain significance ★★ ⚠ same type
- C1QB p.Arg134Gln Uncertain significance ★★ ⚠ same type
- C1QB p.Arg134Trp Uncertain significance ★★ ⚠ same type
- C1QB p.Arg186Gln Uncertain significance ★★ ⚠ same type
- C1QB p.Asp21Asn Uncertain significance ★★ ⚠ same type
- C1QB p.Asp226Glu Uncertain significance ★★ ⚠ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/c1qb-p-pro247 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown